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NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 24, 2020
Accession:
VCV001072776.1
Variation ID:
1072776
Description:
2bp deletion
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NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs)

Allele ID
1062667
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
12q13.13
Genomic location
12: 51913151-51913152 (GRCh38) GRCh38 UCSC
12: 52306935-52306936 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.10735_10736del
NC_000012.11:g.52306936_52306937del
NC_000012.12:g.51913152_51913153del
... more HGVS
Protein change
P39fs
Other names
-
Canonical SPDI
NC_000012.12:51913150:CCC:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Apr 24, 2020 RCV001385584.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACVRL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
572 583

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 24, 2020)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Invitae
Accession: SCV001585479.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Pro39Thrfs*129) in the ACVRL1 gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. Abdalla SA Journal of medical genetics 2006 PMID: 15879500

Record last updated Oct 08, 2021